{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T03:51:46Z","timestamp":1782964306156,"version":"3.54.5"},"reference-count":31,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T00:00:00Z","timestamp":1656633600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T00:00:00Z","timestamp":1656633600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T00:00:00Z","timestamp":1656633600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T00:00:00Z","timestamp":1656633600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T00:00:00Z","timestamp":1656633600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T00:00:00Z","timestamp":1656633600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T00:00:00Z","timestamp":1656633600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/100011781","name":"Shriners Hospitals for Children Boston","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100011781","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Bone"],"published-print":{"date-parts":[[2022,7]]},"DOI":"10.1016\/j.bone.2022.116400","type":"journal-article","created":{"date-parts":[[2022,3,31]],"date-time":"2022-03-31T08:10:39Z","timestamp":1648714239000},"page":"116400","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":25,"special_numbering":"C","title":["Dominant osteogenesis imperfecta with low bone turnover caused by a heterozygous SP7 variant"],"prefix":"10.1016","volume":"160","author":[{"given":"Karissa","family":"Ludwig","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leanne M.","family":"Ward","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nasrin","family":"Khan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Eve","family":"Robinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valancy","family":"Miranda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghalib","family":"Bardai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Moffatt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Rauch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.bone.2022.116400_bb0005","doi-asserted-by":"crossref","first-page":"1657","DOI":"10.1016\/S0140-6736(15)00728-X","article-title":"Osteogenesis imperfecta","volume":"387","author":"Forlino","year":"2016","journal-title":"Lancet"},{"key":"10.1016\/j.bone.2022.116400_bb0010","doi-asserted-by":"crossref","first-page":"3607","DOI":"10.1007\/s00198-016-3709-1","article-title":"DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum","volume":"27","author":"Bardai","year":"2016","journal-title":"Osteoporos. Int."},{"key":"10.1016\/j.bone.2022.116400_bb0015","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1016\/j.ajhg.2010.05.016","article-title":"Identification of a frameshift mutation in osterix in a patient with recessive osteogenesis imperfecta","volume":"87","author":"Lapunzina","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bone.2022.116400_bb0020","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/S0092-8674(01)00622-5","article-title":"The novel zinc finger-containing transcription factor osterix is required for osteoblast differentiation and bone formation","volume":"108","author":"Nakashima","year":"2002","journal-title":"Cell"},{"key":"10.1016\/j.bone.2022.116400_bb0025","doi-asserted-by":"crossref","first-page":"1055","DOI":"10.1359\/jbmr.081248","article-title":"Positive regulation of adult bone formation by osteoblast-specific transcription factor osterix","volume":"24","author":"Baek","year":"2009","journal-title":"J. Bone Miner. Res."},{"key":"10.1016\/j.bone.2022.116400_bb0030","first-page":"1","article-title":"Osterix regulates corticalization for longitudinal bone growth via integrin beta3 expression","volume":"50","author":"Moon","year":"2018","journal-title":"Exp. Mol. Med."},{"key":"10.1016\/j.bone.2022.116400_bb0035","doi-asserted-by":"crossref","first-page":"6271","DOI":"10.1038\/s41467-021-26571-7","article-title":"Control of osteocyte dendrite formation by Sp7 and its target gene osteocrin","volume":"12","author":"Wang","year":"2021","journal-title":"Nat. Commun."},{"key":"10.1016\/j.bone.2022.116400_bb0040","doi-asserted-by":"crossref","first-page":"634","DOI":"10.1016\/j.bbrc.2012.01.064","article-title":"Chondrocyte-specific ablation of Osterix leads to impaired endochondral ossification","volume":"418","author":"Oh","year":"2012","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.bone.2022.116400_bb0045","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1152\/physiolgenomics.00111.2013","article-title":"Haploinsufficiency of osterix in chondrocytes impairs skeletal growth in mice","volume":"45","author":"Cheng","year":"2013","journal-title":"Physiol. Genomics"},{"key":"10.1016\/j.bone.2022.116400_bb0050","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1016\/j.bone.2018.01.031","article-title":"Novel variant in Sp7\/Osx associated with recessive osteogenesis imperfecta with bone fragility and hearing impairment","volume":"110","author":"Fiscaletti","year":"2018","journal-title":"Bone"},{"key":"10.1016\/j.bone.2022.116400_bb0055","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2020.103954","article-title":"Biallelic variants in four genes underlying recessive osteogenesis imperfecta","volume":"63","author":"Hayat","year":"2020","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.bone.2022.116400_bb0060","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1007\/s11657-021-00943-4","article-title":"Diagnostic utility of next-generation sequence genetic panel testing in children presenting with a clinically significant fracture history","volume":"16","author":"Harrington","year":"2021","journal-title":"Arch. Osteoporos."},{"key":"10.1016\/j.bone.2022.116400_bb0065","doi-asserted-by":"crossref","DOI":"10.1016\/j.bone.2020.115364","article-title":"Juvenile Paget's disease from heterozygous mutation of SP7 encoding osterix (specificity protein 7, transcription factor SP7)","volume":"137","author":"Whyte","year":"2020","journal-title":"Bone"},{"key":"10.1016\/j.bone.2022.116400_bb0070","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1038\/s41467-022-28318-4","article-title":"A neomorphic variant in SP7 alters sequence specificity and causes a high-turnover bone disorder","volume":"13","author":"Lui","year":"2022","journal-title":"Nat. Commun."},{"key":"10.1016\/j.bone.2022.116400_bb0075","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1542\/peds.109.1.45","article-title":"Centers for Disease Control and Prevention 2000 growth charts for the United States: improvements to the 1977 National Center for Health Statistics version","volume":"109","author":"Ogden","year":"2002","journal-title":"Pediatrics"},{"key":"10.1016\/j.bone.2022.116400_bb0080","first-page":"217","article-title":"Peripheral quantitative computed tomography of the proximal radius in young subjects - new reference data and interpretation of results","volume":"8","author":"Rauch","year":"2008","journal-title":"J. Musculoskelet. Neuronal Interact."},{"key":"10.1016\/j.bone.2022.116400_bb0085","first-page":"119","article-title":"Peripheral quantitative computed tomography of the distal radius in young subjects - new reference data and interpretation of results","volume":"5","author":"Rauch","year":"2005","journal-title":"J. Musculoskelet. Neuronal Interact."},{"key":"10.1016\/j.bone.2022.116400_bb0090","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/S8756-3282(99)00257-4","article-title":"Normative data for iliac bone histomorphometry in growing children","volume":"26","author":"Glorieux","year":"2000","journal-title":"Bone"},{"key":"10.1016\/j.bone.2022.116400_bb0095","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1007\/s00223-014-9897-9","article-title":"Targeted sequencing of a pediatric metabolic bone gene panel using a desktop semiconductor next-generation sequencer","volume":"95","author":"Rauch","year":"2014","journal-title":"Calcif. Tissue Int."},{"key":"10.1016\/j.bone.2022.116400_bb0100","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1016\/j.devcel.2016.04.002","article-title":"Sp7\/Osterix is restricted to bone-forming vertebrates where it acts as a Dlx co-factor in osteoblast specification","volume":"37","author":"Hojo","year":"2016","journal-title":"Dev. Cell"},{"key":"10.1016\/j.bone.2022.116400_bb0105","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","article-title":"The mutational constraint spectrum quantified from variation in 141,456 humans","volume":"581","author":"Karczewski","year":"2020","journal-title":"Nature"},{"key":"10.1016\/j.bone.2022.116400_bb0110","doi-asserted-by":"crossref","first-page":"3812","DOI":"10.1093\/nar\/gkg509","article-title":"SIFT: predicting amino acid changes that affect protein function","volume":"31","author":"Ng","year":"2003","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bone.2022.116400_bb0115","doi-asserted-by":"crossref","first-page":"1161","DOI":"10.1038\/s41588-018-0167-z","article-title":"Predicting the clinical impact of human mutation with deep neural networks","volume":"50","author":"Sundaram","year":"2018","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bone.2022.116400_bb0120","doi-asserted-by":"crossref","first-page":"634","DOI":"10.1016\/j.bone.2005.06.007","article-title":"High and low density in the same bone: a study on children and adolescents with mild osteogenesis imperfecta","volume":"37","author":"Rauch","year":"2005","journal-title":"Bone"},{"key":"10.1016\/j.bone.2022.116400_bb0125","doi-asserted-by":"crossref","first-page":"1739","DOI":"10.2106\/00004623-200309000-00013","article-title":"Mechanisms responsible for longitudinal growth of the cortex: coalescence of trabecular bone into cortical bone","volume":"85-A","author":"Cadet","year":"2003","journal-title":"J. Bone Joint Surg. Am."},{"key":"10.1016\/j.bone.2022.116400_bb0130","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1016\/j.ajhg.2012.12.001","article-title":"Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2","volume":"92","author":"Moffatt","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bone.2022.116400_bb0135","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1002\/jcp.21176","article-title":"Osterix\/Sp7 regulates mesenchymal stem cell mediated endochondral ossification","volume":"214","author":"Kaback","year":"2008","journal-title":"J. Cell. Physiol."},{"key":"10.1016\/j.bone.2022.116400_bb0140","doi-asserted-by":"crossref","first-page":"683","DOI":"10.1016\/j.spinee.2013.08.039","article-title":"Key role for the transcriptional factor, osterix, in spine development","volume":"14","author":"Chen","year":"2014","journal-title":"Spine J."},{"key":"10.1016\/j.bone.2022.116400_bb0145","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1177\/0022034514565647","article-title":"Osterix regulates tooth root formation in a site-specific manner","volume":"94","author":"Kim","year":"2015","journal-title":"J. Dent. Res."},{"key":"10.1016\/j.bone.2022.116400_bb0150","doi-asserted-by":"crossref","first-page":"1126","DOI":"10.1002\/jbmr.3401","article-title":"Specificity protein 7 is required for proliferation and differentiation of ameloblasts and odontoblasts","volume":"33","author":"Bae","year":"2018","journal-title":"J. Bone Miner. Res."},{"key":"10.1016\/j.bone.2022.116400_bb0155","doi-asserted-by":"crossref","first-page":"1957","DOI":"10.1182\/blood-2014-08-593343","article-title":"Sp1\/Sp3 transcription factors regulate hallmarks of megakaryocyte maturation and platelet formation and function","volume":"125","author":"Meinders","year":"2015","journal-title":"Blood"}],"container-title":["Bone"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S875632822200076X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S875632822200076X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T18:00:05Z","timestamp":1757613605000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S875632822200076X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7]]},"references-count":31,"alternative-id":["S875632822200076X"],"URL":"https:\/\/doi.org\/10.1016\/j.bone.2022.116400","relation":{},"ISSN":["8756-3282"],"issn-type":[{"value":"8756-3282","type":"print"}],"subject":[],"published":{"date-parts":[[2022,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Dominant osteogenesis imperfecta with low bone turnover caused by a heterozygous SP7 variant","name":"articletitle","label":"Article Title"},{"value":"Bone","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bone.2022.116400","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"116400"}}